A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1214



Internal ID15199091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:22877852..22890492hg38UCSC Ensembl
Outerchr14:23347061..23359701hg19UCSC Ensembl
Outerchr14:22416901..22429541hg18UCSC Ensembl
Outerchr14:22416901..22429541hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3812641
hg1912641
hg1812641
hg1712641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9174
SamplesNA12156
Known GenesLRP10, REM2
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv1214
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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